A case of Niemann-Pick disease type A.
10.3345/kjp.2006.49.12.1358
- Author:
Ho Yen YU
1
;
Ji Eun OH
;
Jae Sun PARK
;
Mi Hyang KIM
;
Sin Dong KIM
;
Kyung Soon JUNG
Author Information
1. Department of Pediatrics, College of Medicine Kosin University, Busan, Korea. pjs@ns.kosinmed.or.kr
- Publication Type:Case Report
- Keywords:
Niemann-Pick disease;
Hepatosplenomegaly;
Cherry red spot;
Foam cell
- MeSH:
Asphyxia;
Atrophy;
Biopsy;
Bone Marrow;
Brain;
Diagnosis;
Foam Cells;
Hexosaminidase A;
Korea;
Magnetic Resonance Imaging;
Muscle Hypotonia;
Neurologic Manifestations;
Niemann-Pick Diseases*;
Pneumonia;
Prunus;
Temporal Lobe;
Thalamus
- From:Korean Journal of Pediatrics
2006;49(12):1358-1362
- CountryRepublic of Korea
- Language:English
-
Abstract:
Niemann-Pick disease is a group of autosomal recessive disorders associated with hepatosplenomegaly, variable neurologic deficits, and the storage of sphingomyelin and other lipids. Seven cases have been reported in Korea. We report an additional case presenting with hypotonia, early neurodevelopmental delay, hepatosplenomegaly and death by persistent pneumonia and asphyxia at the age of 23 months. MRI of brain and fundoscopic findings of our case at 4 months of age were normal. However, abnormal intensity of the thalamus and atrophy of the right temporal lobe on the MRI and macular cherry red spots were noticed at the age of 17 months. A bone marrow biopsy showed large foamy cells, while hexosaminidase A and B levels were normal. Although biochemical or molecular workup was not done, these findings led to the diagnosis of infantile onset Niemann-Pick disease, probably type A. A brief review of the related literatures was made.
